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Summaries for Orofacial Cleft 11

UniProtKB/Swiss-Prot
:76
Non-syndromic orofacial cleft 11: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

Disease Ontology
:12
An orofacial cleft that has material basis in heterozygous mutation in the BMP4 gene on chromosome 14q22.

OMIM
:58
Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). (600625)